Variant report

Variant	rs7596746
Chromosome Location	chr2:191223792-191223793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr2:191223325-191223820	GM12878	blood:	n/a	n/a
2	FOXM1	chr2:191223344-191223843	GM12878	blood:	n/a	n/a
3	RUNX3	chr2:191223347-191223805	GM12878	blood:	n/a	n/a
4	SPI1	chr2:191223388-191223809	GM12878	blood:	n/a	n/a
5	FOS	chr2:191223204-191223797	MCF10A-Er-Src	breast:	n/a	chr2:191223466-191223478

Variant related genes	Relation type
INPP1	TF binding region

rs_ID	r²[population]
rs10173651	0.90[AFR][1000 genomes]
rs10183567	0.90[AFR][1000 genomes]
rs10195303	0.90[AFR][1000 genomes]
rs10203186	1.00[AFR][1000 genomes]
rs10205910	1.00[AFR][1000 genomes]
rs13384409	0.90[AFR][1000 genomes]
rs13390473	0.90[AFR][1000 genomes]
rs13401506	0.90[AFR][1000 genomes]
rs13406709	0.90[AFR][1000 genomes]
rs13410853	0.90[AFR][1000 genomes]
rs13432317	1.00[AFR][1000 genomes]
rs16832465	0.90[AFR][1000 genomes]
rs16832616	1.00[AFR][1000 genomes]
rs16832648	0.90[AFR][1000 genomes]
rs28407355	0.90[AFR][1000 genomes]
rs28571630	0.90[AFR][1000 genomes]
rs28625711	0.90[AFR][1000 genomes]
rs7570980	1.00[AFR][1000 genomes]

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
2	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:191209800-191224600	Weak transcription	NH-A	brain
4	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:191210400-191224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:191211000-191224200	Weak transcription	HUVEC	blood vessel
7	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
8	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
10	chr2:191216800-191224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:191216800-191224600	Enhancers	HMEC	breast
12	chr2:191217200-191224200	Weak transcription	HSMM	muscle
13	chr2:191218200-191224400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:191218200-191224600	Weak transcription	Right Ventricle	heart
15	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:191219600-191224200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:191219600-191224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:191219600-191243800	Weak transcription	Gastric	stomach
19	chr2:191220600-191224600	Enhancers	Liver	Liver
20	chr2:191220800-191224600	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:191221200-191224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:191221200-191224400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:191221200-191224600	Weak transcription	Thymus	Thymus
24	chr2:191221400-191223800	Weak transcription	Placenta	Placenta
25	chr2:191221400-191223800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:191221400-191224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:191221400-191224400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:191221400-191224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:191221400-191224600	Weak transcription	Left Ventricle	heart
30	chr2:191221400-191224800	Weak transcription	Lung	lung
31	chr2:191221400-191224800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:191221400-191225000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:191221600-191224600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:191221800-191224200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:191222000-191223800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:191222000-191224200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:191222000-191224600	Weak transcription	Fetal Kidney	kidney
38	chr2:191222000-191224800	Weak transcription	Fetal Intestine Large	intestine
39	chr2:191222200-191224400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:191222200-191224600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:191222200-191225200	Enhancers	HepG2	liver
42	chr2:191222400-191223800	Enhancers	Right Atrium	heart
43	chr2:191222400-191224200	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:191222400-191224400	Enhancers	Fetal Lung	lung
45	chr2:191222400-191224600	Enhancers	Fetal Stomach	stomach
46	chr2:191222600-191224600	Weak transcription	Small Intestine	intestine
47	chr2:191222800-191224200	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:191222800-191224200	Enhancers	Fetal Muscle Leg	muscle
49	chr2:191222800-191224400	Weak transcription	Primary B cells from cord blood	blood
50	chr2:191222800-191224400	Weak transcription	Fetal Intestine Small	intestine

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